ClinVar Miner

List of variants studied for Roifman syndrome by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NR_023343.3(RNU4ATAC):n.50G>A rs181195449

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